O quadro 28, apresenta a versão final das definiçioes em linguagem natural.
QUADRO 28 – Apresentação da versão final das definições em linguagem natural
Termo Definição em linguagem natural
Acute Myeloid Leukemia An Acute myeloid leukemia is a hematopoietic neoplasm that derives from an uncontrolled proliferation of the myeloid lineage and their precursors.
Acute Myeloid Leukemia with myelodysplasia-related changes
An Acute myeloid leukemia with myelodysplasia-related changes is an acute myeloid leukemia that has at least 20% blasts in the bone marrow or blood.
Acute basophilic leukemia An Acute basophilic leukemia is an acute myeloid leukemia characterized by the immature cells that differentiate towards basophils.
Acute erythroid leukemia An Acute erythroid leukemia is an acute myeloid leukemia characterized by a predominant 50% of immature erythroid population.
Acute megakaryocytic leukemia An Acute megakaryocytic leukemia is an acute myeloid leukemia characterized by at least 50% of the blasts are of megakaryocytic lineage.
Acute monoblastic and monocytic leukemia
An Acute monoblastic and monocytic leukemia is an acute myeloid leukemia characterized by 80% or more of the leukemic cells from monocytic lineage, including monoblasts, promonocytes, and monocytes. Acute myeloid leukemia minimally
differentiated
An Acute myeloid leukemia minimally differentiated is an acute myeloid leukemia characterized by less than 3% of blasts positive for MPO and/or Sudan Black B, positivity for myeloid-associated markers. Acute myeloid leukemia with
maturation
An Acute myeloid leukemia with maturation is an acute myeloid leukemia characterized by blasts with evidence of granulocytic maturation.
Acute myeloid leukemia without maturation
An Acute myeloid leukemia without maturation is an acute myeloid leukemia characterized by blasts without evidence of granulocytic maturation.
Acute myelomonocytic leukemia An Acute myelomonocytic leukemia is an acute myeloid leukemia characterized by blasts differentiation of both by granulocytic and monocytic lineage.
Acute panmyelosis with myelofibrosis
An Acute panmyelosis with myelofibrosis is an acute myeloid leukemia characterized by acute panmyeloid proliferation with increased blasts in bone marrow with fibrosis without preexisting primary
myelofibrosis.
Myeloid sarcoma A Myeloid sarcoma is an acute myeloid leukemia characterized by a tumor mass composed of myeloblasts or immature myeloid cells that occurs in extramedullary sites or the bone.
Pure erythroid leukemia A Pure erythroid leukemia is an acute myeloid leukemia characterized by the presence of at least 80% immature erythroid cells in the bone marrow.
Acute myeloid leukemia with recurrent genetic abnormalities
An Acute myeloid leukemia with recurrent genetic abnormalities is an acute myeloid leukemia characterized by recurrent genetic abnormalities such as chromosomal inversions, deletions and translocations.
Acute myeloid leukemia
megakaryoblastic with t (1;22) (p13;q13) RBM15 MKL1
AnAcute myeloid leukemia megakaryoblastic with t 1-22 p13 q13 RBM15 MKL1 is an acute myeloid leukemia characterized bychromosomal rearrangements involving the RBM15 gene on 1p13 and the MKL1 gene on 22q13.
Acute myeloid leukemia with inv (16) ( p13q22) CBFβ MYH11
An Acute myeloid leukemia with inv 16 p13q22 CBFβ MYH11 is an acute myeloid leukemia
characterized by monocytic and granulocytic differentiation with the presence of abnormal eosinophil component in the bone marrow with chromosomal rearrangements involving the core binding factor beta (CBFB) gene on 16p13.1 and the myosin heavy chain (MYH11) gene on 16q22.
Acute myeloid leukemia with inv (3)( q21q26.2) RPN1 EVI1
An Acute myeloid leukemia with inv 3 q21q26.2 RPN1 EVI1is an acute myeloid leukemia characterized by RPN1-EVI1 (RPN1-MECOM) inversion and/or translocation in chromosomal rearrangements involving the RPN1 gene on 3q21 and the EVI1 gene on 3q26.2.
Acute myeloid leukemia with mutated CEBPA
An Acute myeloid leukemia with mutated CEBPA is an acute myeloid leukemia characterized by mutation of the Core-binding factor, beta subunit (CEBPA) gene.
Acute myeloid leukemia with mutated NPM1
An Acute myeloid leukemia with mutated NPM1is an acute myeloid leukemia characterized by mutation of the nucleophosmin gene.
Acute myeloid leukemia with t (16; 16 ) (p13; q22) CBFB MYH11
An Acute myeloid leukemia with t (16; 16) ( p13; q22) CBFB MYH11 is an acute myeloid leukemia characterized by translocation in chromosomal rearrangements involving the Core-binding factor, beta subunit (CBFB) gene on 16p13.1 and the Myosin, heavy chain 11, smooth muscle (MYH11) gene on 16q22.
Acute myeloid leukemia with t (3; 3) (q21 q26.6) RPN EVI1
An Acute myeloid leukemia with t (3; 3) ( q21 q26.6) RPN EVI1 is an acute myeloid leukemia
characterized by translocation with chromosomal rearrangements involving the Ribophorin I (RPN)1 gene on 3q21 and the EVI1 gene on 3q26.2.
(p23 q34) DEK NUP214 characterized by translocation with chromosomal rearrangements involving the DEK gene on 6p23 and the NUP214 gene on 9q34
Acute myeloid leukemia with t (8; 21)( q22 q22) RUNX1 RUNX1T1
An Acute myeloid leukemia with t (8; 21) ( q22; q22) RUNX1 RUNX1T1 is an acute myeloid leukemia characterized by translocation with chromosomal rearrangements involving the Runt-related
transcription factor 1( RUNX1) gene on 8q22 and the Runt-related transcription factor 1 translocated to 1 (RUNX1T1) gene on 21q22.
Acute myeloid leukemia with t (9; 11)( p22 q23) MLLT3 MLL
AnAcute myeloid leukemia with t (9; 11) ( p22 q23) MLLT3 MLL is an Acute myeloid leukemia characterized by translocation with chromosomal rearrangements involving the Myeloid/lymphoid or mixed-lineage leukemia ; translocated to, 3 (MLLT3) gene on 9p22 and the MLL gene on 11q23. Acute promyelocytic leukemia with t
(15;17)( q22-q11-2) PML RARA
An Acute promyelocytic leukemia with t (15;17) ( q22;q11.2) PML RARA is anacute myeloid leukemia characterized by translocation with chromosomal rearrangements involving the Promyelocytic leukemia (PML) gene on 15q22 and the Retinoic acid receptor alpha (RARA) gene on 17q12.
Myelodysplastic syndrome
AMyelodysplastic syndrome is a hematopoietic neoplasm characterized by dysplasia and under production of white blood cells, red blood cells and platelets with a variable risk of transformation to acute leukemia.
Myelodysplastic syndrome with isolated del5q
A Myelodysplastic syndrome with isolated del5q is a myelodysplastic syndrome characterized by a deletion between bands q31 and 33 on chromosome 5 .
Refractory anemia with excess blasts
A Refractory anemia with excess blasts is a myelodysplastic syndrome characterized by the presence of 5-19% myeloblasts in the bone marrow.
Refractory anemia with ringed sideroblasts
A Refractory anemia with ringed sideroblasts is a myelodysplastic syndrome characterized by an anemia in which 15% or more of the erythroid precursors are ringed sideroblasts.
Refractory anemia with unilineage dysplasia
ARefractory anemia with unilineage dysplasia is a myelodysplastic syndrome characterized by morphologic dysplasia of a single myeloid lineage with associated peripheral blood cytopenia . Refractory cytopenia with
multilineage dysplasia
A Refractory cytopenia with multilineage dysplasia is a myelodysplastic syndrome characterized by bi- cytopenia or pancytopenia with dysplastic changes in more then 10% of the cells in two or more of the myeloid cell lines.
Myeloproliferative neoplasm A Myeloproliferative neoplasm is a hematopoietic neoplasm that characterized by proliferation in one or more of the myeloid lineages in the bone marrow and the peripheral blood.
Atypical chronic myeloid leukemia A Atypical chronic myeloid leukemia is a myeloproliferative neoplasm characterized by neutrophil series with leukocytosis and multilineage dysplasia.
Chronic eosinophilic leukemia A Chronic eosinophilic leukemia is a myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors persistently in the blood, marrow and peripheral tissues.
Chronic myelogenous leukemia A Chronic myelogenous leukemia is a myeloproliferative neoplasm characterized by an acquired genetic defect in pluripotent stem cells with expression of the BCR-ABL1 fusion gene.
Chronic myelomonocitic leukemia AChronic myelomonocytic leukemia is a myeloproliferative neoplasm characterized by persistent monocytosis with absence of a Philadelphia chromosome and BCR/ABL fusion gene.
Chronic neutrophilic leukemia AChronic neutrophilic leukemia is a myeloproliferative neoplasm characterized by neutrophilic leukocytosis.
Essential thrombocythemia AnEssential thrombocythemia is a myeloproliferative neoplasm characterized by sustained
thrombocytosis in the blood with increased numbers of large, mature megakaryocytes in the bone marrow. Juvenile myelomonocitic leukemia AJuvenile myelomonocytic leukemia is a myeloproliferative neoplasm characterized by proliferation of
myelomonocytic cells affecting young children.
Mast cell disease AMast cell disease is a myeloproliferative neoplasm characterized by the abnormal increase of mast cells in the bone marrow.
Myeloid neoplasms with abnormalities of PDGFRA PDGFRB or FGFR1
AMyeloid neoplasms with abnormalities of PDGFRA PDGFRB or FGFR1 is a myeloproliferative neoplasm l characterized by rearrangement of the PDGFRA, PDGFRB, or FGFR1 genes, resulting in the formation of fusion transcripts and abnormal tyrosine kinase activity with eosinophilia.
Polycythemia vera A Polycythemia vera is a myeloproliferative neoplasm characterized by mutation at janus kinase 2(JAK2) gene with increased of red blood cells.
8 DISCUSSÃO
Nesta seção da discussão, serão apresentados os principais aspectos envolvendo o desenvolvimento dos resultados da pesquisa, assim como os problemas, dificuldades, soluções encontradas e análises realizadas. As discussões serão apresentadas em três etapas:
1ª Teste do método na formulação das definições. 2ª Validação do especialista e correção das definições. 3ª Apresentação da versão final das definições.